Variant report

Variant	nsv947975
Chromosome Location	chr10:49272407-49389558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:312)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:49333768-49333972	A549	lung:	n/a	n/a
2	CEBPB	chr10:49333765-49333979	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:49333765-49333963	IMR90	lung:	n/a	n/a
4	CEBPB	chr10:49333765-49333977	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr10:49333760-49333984	K562	blood:	n/a	n/a
6	CEBPB	chr10:49333704-49333958	K562	blood:	n/a	n/a
7	CEBPB	chr10:49334781-49335038	K562	blood:	n/a	n/a
8	CEBPB	chr10:49333603-49334066	K562	blood:	n/a	n/a
9	CEBPB	chr10:49272320-49272583	K562	blood:	n/a	n/a
10	CEBPD	chr10:49333637-49334076	K562	blood:	n/a	n/a
11	CTCF	chr10:49368760-49368910	AG09309	skin:	n/a	n/a
12	CTCF	chr10:49368862-49368988	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr10:49368800-49368950	A549	lung:	n/a	n/a
14	CTCF	chr10:49368800-49368950	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:49272338-49272634	GM10248	blood:	n/a	n/a
16	CTCF	chr10:49316472-49316503	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr10:49296326-49296382	GM12878	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
18	CTCF	chr10:49274548-49274599	GM20000	blood:	n/a	n/a
19	CTCF	chr10:49333540-49333690	AG04450	lung:	n/a	n/a
20	CTCF	chr10:49272369-49272660	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr10:49333836-49333926	Lung_OC	lung:	n/a	n/a
22	CTCF	chr10:49302730-49302762	Lung_OC	lung:	n/a	n/a
23	CTCF	chr10:49304038-49304097	Medullo	brain:	n/a	n/a
24	CTCF	chr10:49368760-49368910	HRE	kidney:	n/a	n/a
25	CTCF	chr10:49368760-49368910	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr10:49333755-49334007	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr10:49368760-49368910	GM12872	blood:	n/a	n/a
28	CTCF	chr10:49286321-49286379	GM20000	blood:	n/a	n/a
29	CTCF	chr10:49364776-49364807	GM13977	blood:	n/a	n/a
30	CTCF	chr10:49368677-49369189	A549	lung:	n/a	n/a
31	CTCF	chr10:49372179-49372226	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:49296336-49296383	GM10266	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
33	CTCF	chr10:49272279-49272623	K562	blood:	n/a	n/a
34	CTCF	chr10:49316402-49316423	GM10248	blood:	n/a	n/a
35	CTCF	chr10:49368800-49368950	GM12872	blood:	n/a	n/a
36	CTCF	chr10:49368800-49368950	GM12869	blood:	n/a	n/a
37	CTCF	chr10:49296723-49296790	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr10:49324167-49324237	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr10:49368780-49368930	HAc	cerebellar:	n/a	n/a
40	CTCF	chr10:49296168-49296494	A549	lung:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
41	CTCF	chr10:49296275-49296420	K562	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
42	CTCF	chr10:49321575-49321626	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr10:49374435-49374453	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr10:49368885-49368981	GM19238	blood:	n/a	n/a
45	CTCF	chr10:49272162-49272690	A549	lung:	n/a	n/a
46	CTCF	chr10:49301519-49301570	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr10:49333831-49333942	GM13977	blood:	n/a	n/a
48	CTCF	chr10:49368760-49368910	AG09319	gingival:	n/a	n/a
49	CTCF	chr10:49296197-49296469	K562	blood:	n/a	chr10:49296342-49296363 chr10:49296347-49296365
50	CTCF	chr10:49333900-49334050	HEK293	kidney:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49382153-49382203	T-47D	breast:	n/a
2	chr10:49382153-49382203	BJ	skin:	n/a
3	chr10:49365197-49365247	BJ	skin:	n/a
4	chr10:49382153-49382203	A549	lung:	n/a
5	chr10:49348564-49348614	Hepatocyte	liver:	n/a
6	chr10:49378921-49378971	AG04449	skin:	fetal
7	chr10:49381591-49381641	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:49388054-49388104	NB4	blood:	n/a
9	chr10:49365197-49365247	AG10803	skin:	n/a
10	chr10:49378921-49378971	SK-N-SH_RA	brain:	n/a
11	chr10:49388054-49388104	HMEC	breast:	n/a
12	chr10:49387924-49387974	HCF	heart:	n/a
13	chr10:49381591-49381641	PANC-1	pancreas:	n/a
14	chr10:49365197-49365247	SAEC	small airway:	n/a
15	chr10:49388054-49388104	H1-hESC	embryonic stem cell:	embryo
16	chr10:49388054-49388104	HUVEC	blood vessel:	n/a
17	chr10:49348564-49348614	Caco-2	colon:	n/a
18	chr10:49387924-49387974	NB4	blood:	n/a
19	chr10:49365197-49365247	PANC-1	pancreas:	n/a
20	chr10:49365197-49365247	NHBE	bronchial:	n/a
21	chr10:49387924-49387974	HRPEpiC	eye:	n/a
22	chr10:49348564-49348614	SKMC	muscle:	n/a
23	chr10:49388054-49388104	NHDF-neo	bronchial:	n/a
24	chr10:49365197-49365247	NHDF-neo	bronchial:	n/a
25	chr10:49388054-49388104	HRE	kidney:	n/a
26	chr10:49348564-49348614	GM06990	blood:	n/a
27	chr10:49378921-49378971	HIPEpiC	eye:	n/a
28	chr10:49378921-49378971	Hela-S3	cervix:	n/a
29	chr10:49365197-49365247	HCM	heart:	n/a
30	chr10:49365197-49365247	Hela-S3	cervix:	n/a
31	chr10:49381591-49381641	NB4	blood:	n/a
32	chr10:49348564-49348614	PANC-1	pancreas:	n/a
33	chr10:49382153-49382203	GM06990	blood:	n/a
34	chr10:49381591-49381641	K562	blood:	n/a
35	chr10:49381591-49381641	H1-hESC	embryonic stem cell:	embryo
36	chr10:49388054-49388104	HCF	heart:	n/a
37	chr10:49381591-49381641	SK-N-SH_RA	brain:	n/a
38	chr10:49381591-49381641	HEK293	kidney:	embryo
39	chr10:49387924-49387974	Hepatocyte	liver:	n/a
40	chr10:49381591-49381641	HRPEpiC	eye:	n/a
41	chr10:49348564-49348614	ProgFib	skin:	n/a
42	chr10:49387924-49387974	HCT-116	colon:	n/a
43	chr10:49388054-49388104	MCF-7	breast:	n/a
44	chr10:49378921-49378971	BJ	skin:	n/a
45	chr10:49388054-49388104	IMR90	lung:	fetal
46	chr10:49381591-49381641	GM12891	blood:	n/a
47	chr10:49348564-49348614	AoSMC	blood vessel:	n/a
48	chr10:49382153-49382203	HCT-116	colon:	n/a
49	chr10:49348564-49348614	MCF10A-Er-Src	breast:	n/a
50	chr10:49388054-49388104	PFSK-1	brain:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN20C-6	chr10:49387910-49389727	ucscGeneNc_uc001jgx_1
2	lnc-MAPK8-6	chr10:49313937-49314716	expReg_chr10_2502_+
3	lnc-MAPK8-5	chr10:49316927-49317254	expReg_chr10_2514_+
4	lnc-PTPN20C-1	chr10:49364136-49364177	ENSG00000232462.1
5	lnc-PTPN20C-3	chr10:49357092-49357245	ucscGeneNc_uc001jgw_2
6	lnc-PTPN20C-1	chr10:49363368-49363746	ENSG00000232462.1
7	lnc-PTPN20C-3	chr10:49346057-49347865	ucscGeneNc_uc001jgw_2

No data

Variant related genes	Relation type
PTPN20CP	TF binding region
BMS1P7	TF binding region
ENSG00000232462	TF binding region
FRMPD2	TF binding region
PTPN20CP	CpG island
BMS1P7	CpG island
ENSG00000232462	CpG island
FRMPD2	CpG island

Extended variants
information (count: 442 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111986834	chr10:49272421-49272422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9418869	chr10:49272468-49272469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138195894	chr10:49310509-49310510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185504229	chr10:49310590-49310591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191579497	chr10:49310598-49310599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558449027	chr10:49310648-49310649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143098719	chr10:49310649-49310650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544165530	chr10:49310739-49310740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562733244	chr10:49310782-49310783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529844001	chr10:49311107-49311108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543145062	chr10:49311127-49311128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561324246	chr10:49311144-49311145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565306225	chr10:49314146-49314147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs182558120	chr10:49314191-49314192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs551266185	chr10:49314321-49314322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs569405478	chr10:49314373-49314374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs530340159	chr10:49314399-49314400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548342006	chr10:49314407-49314408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs187976247	chr10:49314452-49314453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs536401310	chr10:49314453-49314454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs533672368	chr10:49314526-49314527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs558230079	chr10:49314537-49314538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs570464759	chr10:49314613-49314614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs199855129	chr10:49318679-49318680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540777286	chr10:49318817-49318818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565338595	chr10:49318856-49318857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577172848	chr10:49318868-49318869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2652370	chr10:49318884-49318885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369804133	chr10:49318978-49318979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150013691	chr10:49319300-49319301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
31	rs151200482	chr10:49319323-49319324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556133196	chr10:49319921-49319922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs983721	chr10:49319933-49319934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183414315	chr10:49319942-49319943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs983722	chr10:49319950-49319951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544679057	chr10:49320027-49320028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs562773805	chr10:49320031-49320032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374071451	chr10:49320144-49320145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs574775850	chr10:49320146-49320147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572454053	chr10:49320207-49320208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs367989472	chr10:49320287-49320288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs199613641	chr10:49320822-49320823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542161028	chr10:49320960-49320961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560371583	chr10:49321040-49321041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs527880328	chr10:49321042-49321043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552322880	chr10:49321379-49321380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564220810	chr10:49321530-49321531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371567115	chr10:49321604-49321605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368501799	chr10:49321634-49321635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371434469	chr10:49321774-49321775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49310400-49310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:49310400-49310800	Enhancers	Fetal Thymus	thymus
3	chr10:49310400-49311200	Enhancers	Dnd41	blood
4	chr10:49318600-49319000	Enhancers	Dnd41	blood
5	chr10:49356400-49357000	Enhancers	Dnd41	blood
6	chr10:49361000-49361200	Enhancers	Fetal Thymus	thymus
7	chr10:49361200-49362200	Weak transcription	Fetal Thymus	thymus
8	chr10:49362200-49363000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:49362200-49363200	Enhancers	Fetal Thymus	thymus
10	chr10:49362800-49363600	Enhancers	Dnd41	blood
11	chr10:49378400-49379000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:49379000-49380400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:49380400-49381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:49380400-49381800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:49380600-49381000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:49380600-49381000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:49380800-49381000	Enhancers	Brain Substantia Nigra	brain
18	chr10:49381000-49390400	Weak transcription	Brain Substantia Nigra	brain

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